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Assessment of Patient Clinical Descriptions and Pathogenic Variants From Gene Panel Sequences in the CAGI‐5 Intellectual Disability Challenge

Human Mutation - United States
doi 10.1002/humu.23823
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Abstract

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Categories
Genetics
Date

July 3, 2019

Authors
Marco CarraroAlexander Miguel MonzonLuigi ChiricostaFrancesco ReggianiMaria Cristina AspromonteMariagrazia BelliniKymberleigh PagelYuxiang JiangPredrag RadivojacKunal KunduLipika R. PalYizhou YinIvan LimongelliGaia AndreolettiJohn MoultStephen J. WilsonPanagiotis KatsonisOlivier LichtargeJingqi ChenYaqiong WangZhiqiang HuSteven E. BrennerCarlo FerrariAlessandra MurgiaSilvio C.E. TosattoEmanuela Leonardi
Publisher

Wiley

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